Subcortical volumes in offspring with a multigenerational family history of depression - A study across two cohorts.

BACKGROUND: Having multiple previous generations with depression in the family increases offspring risk for psychopathology. Parental depression has been associated with smaller subcortical brain volumes in their children, but whether two prior generations with depression is associated with further decreases is unclear. METHODS: Using two independent cohorts, 1) a Three-Generation Study (TGS, N = 65) with direct clinical interviews of adults and children across all three generations, and 2) the Adolescent Brain Cognitive Development Study (ABCD, N = 10,626) of 9-10 year-old children with family history assessed by a caregiver, we tested whether having more generations of depression in the family was associated with smaller subcortical volumes (using structural MRI). RESULTS: In TGS, caudate, pallidum and putamen showed decreasing volumes with higher familial risk for depression. Having a parent and a grandparent with depression was associated with decreased volume compared to having no familial depression in these regions. Putamen volume was associated with depression at eight-year follow-up. In ABCD, smaller pallidum and putamen were associated with family history, which was driven by parental depression, regardless of grandparental depression. LIMITATIONS: Discrepancies between cohorts could be due to interview type (clinical or self-report) and informant (individual or common informant), sample size or age. Future analyses of follow-up ABCD waves will be able to assess whether effects of grandparental depression on brain markers become more apparent as the children enter young adulthood. CONCLUSIONS: Basal ganglia regional volumes are significantly smaller in offspring with a family history of depression in two independent cohorts.

The bottom-up approach in multigenerational family therapy: The child as the family guide.

In therapy, the child is mainly seen as a problem to be labeled or as a victim of various forms of abuse. The idea of the child as a therapeutic resource is the central point of my article where children's symptoms are quickly reframed and get a relational meaning in the family. Once the relational competence of the child is appreciated and his voice is heard, the child becomes a special guide to explore the emotional world of his family, and the genogram can provide a wonderful platform to start this therapeutic journey. Using a multigenerational lens, I describe how to explore family development with a "bottom-up approach." Intergenerational questions can be asked to the child and with his help relevant family events can emerge and broken bonds repaired. The therapeutic results I expect are the resolution of children's problems and family transformation.

DNA repair-related heritable photosensitivity syndromes: Mutation landscape in a multiethnic cohort of 17 multigenerational families with high degree of consanguinity.

Inherited photosensitivity syndromes are a heterogeneous group of genetic skin disorders with tremendous phenotypic variability, characterized by photosensitivity and defective DNA repair, especially nucleotide excision repair. A cohort of 17 Iranian families with heritable photosensitivity syndromes was evaluated to identify their genetic defect. The patients' DNA was analyzed with either whole-exome sequencing or RNA sequencing (RNA-Seq). The interpretations of the genomic results were guided by genome-wide homozygosity mapping. Haplotype analysis was performed for cases with recurrent mutations. RNA-Seq, in addition to mutation detection, was also utilized to confirm the pathogenicity. Thirteen sequence variants, including six previously unreported pathogenic variants, were disclosed in 17 Iranian families, with XPC as the most common mutated gene in 10 families (59%). In one patient, RNA-Seq, as a first-tier diagnostic approach, revealed a non-canonical homozygous germline variant: XPC:c.413-9 T > A. The Sashimi plot showed skipping of exon 4 with dramatic XPC down-expression. Haplotype analysis of XPC:c.2251-1 G>C and XPC:1243 C>T in four families showed common haplotypes of 1.7 Mb and 2.6 Mb, respectively, denoting a founder effect. Lastly, two extremely rare cases were presented in this report: a homozygous UVSSA:c .1990 C>T was disclosed, and ERCC2-related cerebro-oculo-facio-skeletal (COFS) syndrome with an early childhood death. A direct comparison of our data with the results of previously reported cohorts demonstrates the international mutation landscape of DNA repair-related photosensitivity disorders, although population-specific differences were observed.

The role of emotion recognition in the intergenerational transmission of child maltreatment: A multigenerational family study.

BACKGROUND: Understanding how child maltreatment is passed down from one generation to the next is crucial for the development of intervention and prevention strategies that may break the cycle of child maltreatment. Changes in emotion recognition due to childhood maltreatment have repeatedly been found, and may underly the intergenerational transmission of child maltreatment. OBJECTIVE: In this study we, therefore, examined whether the ability to recognize emotions plays a role in the intergenerational transmission of child abuse and neglect. PARTICIPANTS AND SETTING: A total of 250 parents (104 males, 146 females) were included that participated in a three-generation family study. METHOD: Participants completed an emotion recognition task in which they were presented with series of photographs that depicted the unfolding of facial expressions from neutrality to the peak emotions anger, fear, happiness, and sadness. Multi-informant measures were used to examine experienced and perpetrated child maltreatment. RESULTS: A history of abuse, but not neglect, predicted a shorter reaction time to identify fear and anger. In addition, parents who showed higher levels of neglectful behavior made more errors in identifying fear, whereas parents who showed higher levels of abusive behavior made more errors in identifying anger. Emotion recognition did not mediate the association between experienced and perpetrated child maltreatment. CONCLUSIONS: Findings highlight the importance of distinguishing between abuse and neglect when investigating the precursors and sequalae of child maltreatment. In addition, the effectiveness of interventions that aim to break the cycle of abuse and neglect could be improved by better addressing the specific problems with emotion processing of abusive and neglectful parents.

Altered Splicing of LAMP2 in a Multigenerational Family from Latvia Affected by Danon Disease.

Background and Objectives: Danon disease is a multisystemic disorder associated with variants in the LAMP2 gene, mainly affecting the cardiac muscle. Here, we report a multigenerational family from Latvia with two male patients, hemizygous for a novel splice-affecting variant c.928+3A>G. Affected patients exhibit a cardiac phenotype, moderate mental disability, and mild retinal changes. Materials and Methods: Both patients underwent either exome or hypertrophic cardiomyopathy gene panel next-generation sequencing. The pathogenic variant effect was determined using reverse transcription, Sanger sequencing, and high-resolution electrophoresis. Results: Evaluation of the splicing process revealed that approximately 80% of the transcripts exhibited a lack of the entire exon 7. This alteration was predicted to cause a shift of the reading frame, consequently introducing a premature stop codon downstream in the sequence. Conclusions: Based on our data, we propose that c.928+3A>G is a pathogenic variant associated with Danon disease.

Socioeconomic status and risk for child psychopathology: exploring gene-environment interaction in the presence of gene-environment correlation using extended families in the Norwegian Mother, Father and Child Birth Cohort Study.

BACKGROUND: Low socioeconomic status (SES) is associated with increased risk for emotional and behavioural problems among children. Evidence from twin studies has shown that family SES moderates genetic and environmental influences on child mental health. However, it is also known that SES is itself under genetic influence and previous gene-environment interaction (G×E) studies have not incorporated the potential genetic overlap between child mental health and family SES into G×E analyses. We applied a novel approach using extended family data to investigate the moderation of aetiological influences on child emotional and behavioural problems by parental socioeconomic status in the presence of modelled gene-environment correlation. METHODS: The sample comprised >28,100 children in extended-family units drawn from the Norwegian Mother, Father and Child Cohort Study (MoBa). Mothers reported children's emotional and behavioural symptoms. Parents' income and educational attainment were obtained through linkage to administrative register data. Bivariate moderation Multiple-Children-of-Twins-and-Siblings (MCoTS) models were used to analyse relationships between offspring outcomes (emotional and behavioural symptom scores) and parental socioeconomic moderators (income rank and educational attainment). RESULTS: The aetiology of child emotional symptoms was moderated by maternal and paternal educational attainment. Shared environmental influences on child emotional symptoms were greater at lower levels of parents' education. The aetiology of child behavioural symptoms was moderated by maternal, but not paternal, socioeconomic factors. Genetic factors shared between maternal income and child behavioural symptoms were greater in families with lower levels maternal income. Nonshared environmental influences on child behavioural symptoms were greater in families with higher maternal income and education. CONCLUSIONS: Parental socioeconomic indicators moderated familial influences and nonshared environmental influences on child emotional and behavioural outcomes. Maternal SES and child mental health share aetiological overlap such that shared genetic influence was greater at the lower end of the socioeconomic distribution. Our findings collectively highlight the role that family socioeconomic factors play in shaping the origins of child emotional and behavioural problems.

Whakawhanaungatanga-Building trust and connections: A qualitative study indigenous Maori patients and whanau (extended family network) hospital experiences.

AIMS: Investigated the experiences of Maori (the Indigenous peoples of Aotearoa, New Zealand) patients and whanau (extended family network) engaging with acute hospital inpatient services and their priorities for a Maori-centred model of relational care. DESIGN: A qualitative Maori-centred research design using a Thought Space Wananga (learning through in-depth group discussion, deliberation and consideration) approach. METHODS: Two wananga were conducted between May 2022 and June 2022, with 13 Maori patients who had been acutely hospitalized within the past 12 months and their whanau members. The first wananga utilized storytelling and journey mapping to collect data. The second wananga refined the initial themes. Wananga were audio-recorded and then inductively coded and developed into themes. RESULTS: Thirteen patients and whanau attended the first wananga, while 10 patients and whanau participated in the second wananga). Four themes were developed: (1) Whakawhanaungatanga (establishing connections and relationships), (2) Whakamana (uplifting the status and esteem of Maori), (3) Whakawhitiwhiti korero (the importance of communicating, discussing and deliberating) and (4) Kotahitanga (working together with purpose) all provide insights into the importance of effectively engaging and connecting with Maori patients and whanau when acutely hospitalized. CONCLUSIONS: The experiences and priorities of Maori patients and whanau affirm the international literature, suggesting that Indigenous relational concepts are critical to building relationships, connections and trust. Despite existing healthcare models for working with Indigenous peoples, their poor application contributes to sub-optimal healthcare experiences at all points of their healthcare journey. A relational mode of practice focused on engagement and forming connections better meets the needs of Indigenous peoples engaging with inpatient health services. IMPLICATIONS FOR THE PROFESSION AND/OR PATIENT CARE: Despite the existence of Indigenous models of care, Indigenous peoples consistently report a lack of engagement and connection when accessing inpatient health services. Without establishing relationships, applying models of care is challenging. IMPACT (ADDRESSING): What problem did the study address? Internationally, healthcare systems are consistently ill-equipped to deliver culturally safe care for Indigenous and marginalized peoples, evident in ongoing health inequities. Like other reports of Indigenous experiences of health services, Maori express dissatisfaction with care delivery in an acute inpatient setting. This study investigated Maori patients and whanau experiences engaging with acute hospital inpatient services and their priorities for a Maori-centred model of relational care. What were the main findings? Maori patients and whanau recounted negative experiences with healthcare professionals lacking effective relationships and trust. Satisfaction occurred when engagement with health care professionals resembled Indigenous cultural rituals of encounter that considered their holistic, collective and dynamic worldviews. Previous models of relational care, while helpful, are not Indigenous and so do not address their needs, such as engagement as a mode of practice (how) to achieve this. Where and on whom will the research have an impact? This research impacts Indigenous peoples' health outcomes, particularly Maori, and nurses and clinicians working and interacting within acute inpatient and other hospital settings. Indigenous research methods support co-constructing knowledge for translation into practical outcomes through transformational practices, policies and theory development. REPORTING METHOD: We used the Consolidated Criteria for Strengthening the Reporting of Health Research Involving Indigenous Peoples (CONSIDER) statement (see File S2-CONSIDER Checklist) and the Consolidated Criteria for Reporting Qualitative Research (COREQ) guidelines (see File S3-COREQ Checklist). PATIENT OR PUBLIC CONTRIBUTION: Maori patients and their whanau interviewed about their experiences were involved in data interpretation.

It takes a village: A multi-brain approach to studying multigenerational family communication.

Grandparents play a critical role in child rearing across the globe. Yet, there is a shortage of neurobiological research examining the relationship between grandparents and their grandchildren. We employ multi-brain neurocomputational models to simulate how changes in neurophysiological processes in both development and healthy aging affect multigenerational inter-brain coupling - a neural marker that has been linked to a range of socio-emotional and cognitive outcomes. The simulations suggest that grandparent-child interactions may be paired with higher inter-brain coupling than parent-child interactions, raising the possibility that the former may be more advantageous under certain conditions. Critically, this enhancement of inter-brain coupling for grandparent-child interactions is more pronounced in tri-generational interactions that also include a parent, which may speak to findings that grandparent involvement in childrearing is most beneficial if the parent is also an active household member. Together, these findings underscore that a better understanding of the neurobiological basis of cross-generational interactions is vital, and that such knowledge can be helpful in guiding interventions that consider the whole family. We advocate for a community neuroscience approach in developmental social neuroscience to capture the diversity of child-caregiver relationships in real-world settings.

Unraveling Alström syndrome: Homozygous mutation c.2729C>G in ALMS1 gene across an extended family.

BACKGROUND: Alström syndrome (AS) represents an exceptionally rare genetic disorder characterized by a constellation of features including cardiomyopathy, progressive hearing and vision impairment, as well as obesity. This study seeks to elucidate the genetic underpinnings of this syndrome within the Saudi Arabian population. METHODS: Employing an extended family cohort, we conducted an exhaustive molecular genetic assessment to delineate the presence of Alström syndrome. Additionally, we conducted an extensive review of existing literature from Saudi population to contextualize our findings within the broader understanding of the disorder in our country. RESULTS: Within our studied extended family, we identified two individuals harboring the homozygous pathogenic mutation (c.2729C>G) in the ALMS1 gene [NM_015120.4:c.2729C>G (p.Ser910*)]. Notably, carrier status was observed in the parents, whereas some siblings exhibited typical alleles while others were carriers of the mutation. Intriguingly, a review of the literature unveiled six distinct reports documenting a total of 20 Alström syndrome patients within the Saudi Arabian population, each presenting with distinct novel mutations. CONCLUSIONS: In cases featuring cardiomyopathy, obesity, and progressive hearing and vision loss, Alström syndrome merits inclusion within the differential diagnosis. To confirm the diagnosis, molecular genetic assessment of the ALMS1 gene is imperative, offering definitive clarity amidst the complex clinical presentation. This investigation reinforces the importance of genetic scrutiny for precise diagnosis and highlights the unique genetic landscape of Alström syndrome within the Saudi Arabian population.

Extended families? Contact expectations and experiences of egg donors donating to previously unknown recipients.

In New Zealand egg donation is identity-release, and donors may be known to recipients, e.g. family members/friends, or previously unknown e.g. clinic-recruited or sourced through advertising. In the case of unknown donors, New Zealand practice allows donors and recipients to meet face-to-face prior to donation in a joint counselling meeting. While contact details may not necessarily be exchanged in counselling, information-exchange and contact expectations are usually addressed. In previous papers, we explored donors' motivations and experiences of donation. In this paper, we explore donors' ideas around their role in relation to the donor-conceived person (DCP) and their expectations and experiences of information-exchange and contact. While donors did not see themselves as parents and were aware of appropriate boundaries, they described a sense of ongoing connection to DCP, often framing this in extended family terms. They desired to be kept informed about DCP, considered themselves 'on standby' for information requests or in-person contact and valued the opportunity for connection between their children and DCP. Donors were, however, cognisant of the limits to their ability to ensure information-exchange and contact and sometimes struggled with their perceived disempowered position. Meeting prior to donation may both clarify and reinforce expectations of information-exchange and contact.

Factors affecting ability of TB patients to follow treatment guidelines - applying a capability approach.

BACKGROUND: Negotiating anti-Tuberculosis treatment is a complicated process comprising daily consumption of multiple medications at stipulated times and dosages, as well as periodic follow-ups and investigations, may not be uniform for all Tuberculosis (TB) patients and some may perform better than others. In this context, we conducted a study in Thiruvananthapuram district, Kerala to ascertain the ability of those suffering from TB to follow treatment guidelines. METHODS: This study used an embedded mixed methods design. We collected cross-sectional data from 135 drug sensitive pulmonary TB patients aged 18 years or above in Thiruvananthapuram, Kerala using a structured questionnaire to get the proportion of patients following all treatment guidelines. We also did eight in-depth interviews (four men and four women) from within the survey sample. The in-depth interviews were inductively analysed for getting deeper insights about reasons for the choices people made regarding the treatment guidelines. Written informed consent was taken from all participants and the study was implemented after the necessary programmatic and ethical clearances. RESULTS: Of the 105 men and 30 women studied, uninterrupted daily drug consumption was reported by 80 persons (59.3%, 95% Confidence Intervals (CI) 50.8-67.2%). Overall, 38 (28.2%, 95% CI 21.3%-36.3%) persons were able to follow all seven aspects of advised guidelines. Living in an extended/ joint family (Adjusted Odds ratio (AOR) 2.6, 95% CI 1.1-6.0), approximate monthly household expenditure of over rupees 13,500 (AOR 2.9, 95% CI 1.3-6.7) and no perceived delay in seeking initial care (AOR 3.2, 95% CI 1.2-8.7) were significantly associated with following all aspects of treatment guidelines. In-depth interviews revealed reflective treatment related behaviours were influenced by bodily experiences, moral perceptions, social construct of TB, programmatic factors and substance use. Sometimes behaviours were non-reflective also. Programmatic stress was on individual agency for changing behaviour but capability and opportunity for these were influenced social aspects like stigma, gender roles and poverty. CONCLUSION: TB patients live amidst a syndemic of biomedical and social problems. These problems influence the capabilities and opportunities of such TB patients to follow treatment guidelines. Interventions should balance focus on individual agency and social abd economic factors.

Expanded Family Health Center: an analysis based on fundamental teamwork concepts and attributes. / Núcleo Ampliado de Saúde da Família: análise a partir dos conceitos fundamentais e atributos do trabalho em equipe.

Primary Care work is based on sharing and meeting various knowledge to achieve comprehensiveness. In this rationale, the Extended Family Health and Primary Care Center (NASF-AB) acts as a strategy for teamwork. We aimed to investigate the NASF-AB work process from the fundamental teamwork concepts and attributes. This evaluative, qualitative study was developed from 2018 to 2020, observing the NASF-AB and family health teamwork process, and focus groups with 43 professionals from both teams. Our analysis considered NASF-AB theoretical, methodological, and operational concepts. The results refer to a work attentive to the particularities of the territory aligned with health responsibility, besides recognizing NASF-AB support in clients' autonomy by establishing a bond.

A atuação da Atenção Básica baseia-se na partilha e encontros de diversos saberes na busca da integralidade das ações ofertadas, nessa lógica o Núcleo Ampliado de Saúde da Família e Atenção Básica (Nasf-AB) atua como estratégia para o trabalho em equipe. Objetiva-se investigar o processo de trabalho do Nasf-AB, a partir dos conceitos fundamentais e atributos do trabalho em equipe. Estudo avaliativo, qualitativo, desenvolvido entre 2018 e 2020. Realizada observação do processo de trabalho do Nasf-AB e da equipe de saúde da família, e grupos focais com 43 profissionais das duas equipes. Na análise, consideram-se as concepções teóricas, metodológicas e operacionais do Nasf-AB. Os resultados remetem a um trabalho atento às particularidades do território consonante com a responsabilidade sanitária além de reconhecer o apoio do Nasf-AB na autonomia dos usuários por meio da criação de vínculo.

Multiple Sclerosis Heritability Estimation on Sardinian Ascertained Extended Families Using Bayesian Liability Threshold Model.

Heritability studies represent an important tool to investigate the main sources of variability for complex diseases, whose etiology involves both genetics and environmental factors. In this paper, we aimed to estimate multiple sclerosis (MS) narrow-sense heritability (h2), on a liability scale, using extended families ascertained from affected probands sampled in the Sardinian province of Nuoro, Italy. We also investigated the sources of MS liability variability among shared environment effects, sex, and categorized year of birth (<1946, ≥1946). The latter can be considered a proxy for different early environmental exposures. To this aim, we implemented a Bayesian liability threshold model to obtain posterior distributions for the parameters of interest adjusting for ascertainment bias. Our analysis highlighted categorized year of birth as the main explanatory factor, explaining ~70% of MS liability variability (median value = 0.69, 95% CI: 0.64, 0.73), while h2 resulted near to 0% (median value = 0.03, 95% CI: 0.00, 0.09). By performing a year of birth-stratified analysis, we found a high h2 only in individuals born on/after 1946 (median value = 0.82, 95% CI: 0.68, 0.93), meaning that the genetic variability acquired a high explanatory role only when focusing on this subpopulation. Overall, the results obtained highlighted early environmental exposures, in the Sardinian population, as a meaningful factor involved in MS to be further investigated.

Parents' perspectives on the role of kin in child-rearing: a qualitative study on Greenland's universal parenting programme MANU.

Nurturing care and protection from parents and community in the early years of life are fundamental for a child's development. The article aims to explore what relations parents see as meaningful in their child's upbringing and how these are shaped, and how these perspectives are reflected in MANU. MANU is a universal parenting programme in Greenland. Ten of 40 interviews with parents were selected for the analysis of this article's objective. Five grandparents were interviewed. Grandparents are the child's closest extended family members and provide support to parents. Parents placed between one to 19 extended family members in their child's network. Eating and being in nature together, along with familial and intergenerational connectedness, were deemed valuable and important aspects in child-rearing. Parents' own experiences in childhood can influence and complicate how parents place their new family within the extended family. The MANU materials address aspects in the role of kin that parents and grandparents described in interviews. The format and delivery of MANU aims to be universal and mostly addresses Western epistemologies, but both Western and Inuit epistemologies coexists in Greenland. This article creates a window into the existing context parents navigate in. It is important that initiatives are built within this context to ensure they are relevant to families.

A test of the instability hypothesis in low- and middle-income countries.

The instability hypothesis proposes that family structure transitions lead to negative child outcomes through the pathway of stress. However, in many cases, family structure transitions are not associated with stress or negative child outcomes, suggesting that there are specific circumstances under which transitions are more or less stressful. Using five rounds of data (ages 1-15) from the Young Lives study (N = 8,062) which follows children and their caregivers in Ethiopia, India, Peru, and Vietnam, we had two aims: (a) to test the instability hypothesis, and (b) to examine the specific circumstances under which family structure transitions lead to stress and worsened child physical health. First, we used multilevel mediation to assess whether financial stress mediated the link between family structure transitions and children's physical health. We then added household size, multigenerational household, and horizontally extended kin household as moderators to the family structure transition-financial stress relationship. We found that financial stress did not mediate the link between family structure transitions and children's physical health in any of the Young Lives countries. We found some moderated mediation effects for household size and multigenerational households in Peru and Vietnam, but effect sizes were small. These findings highlight the need to further unpack the instability hypothesis to understand the specific circumstances under which family structure transitions lead to stress and worsened child outcomes. (PsycInfo Database Record (c) 2023 APA, all rights reserved).

Barriers and facilitators to lower extremity orthotic compliance in the pediatric population: A scoping review of the literature.

Despite the purported benefits of lower extremity orthotics in the literature, pediatric compliance rates remain low. This scoping review synthesized the available literature regarding barriers and facilitators to lower extremity orthotic compliance in the pediatric population using the framework of the International Classification of Functioning, Disability and Health: Children and Youth (ICF). A comprehensive search of MEDLINE, EMBASE, and CINAHL was conducted on May 11, 2021, and of PsycInfo on May 12, 2021. Article reference lists and gray literature were also searched. A total of 81 articles were included. Factors described in at least four articles were labeled as universal barriers or facilitators. In the International Classification of Functioning, Disability and Health: Children and Youth domain of Body Functions/Body Structures, universal barriers were present in the global mental functions, experience of self and time, sensory functions, function of joints and bones, and structures related to the skin subcategories, with no universal facilitators identified. For the Activity Limitations/Participation Restrictions domain, one universal facilitator was identified in the mobility subcategory. In the Environmental Contextual Factors domain, universal barriers were found in the attitudes of immediate and extended family and societal attitude subcategories, with both universal barriers and facilitators found in support & relationships: immediate and extended family, support and relationships: health professionals, services, systems, and policies, and products and technology. The reviewed literature strongly emphasizes the importance of proper orthotic fit and comfort, and the child's experience of self, for lower extremity orthotic compliance, along with multiple environmental factors.

Local knowledge and unliveable narratives: How insights from family caregiving narratives can inform locally relevant ageing policy.

BACKGROUND AND OBJECTIVES: Accommodating local knowledge in national ageing policy demonstrates a country's intention to preserve local values, including cultural values of older adults' care. However, including local knowledge must provide space for nuanced and adaptive responses to it so that ageing policies can support families in adapting to changes and challenges around caregiving. RESEARCH DESIGN AND METHODS: This study interviewed members of 11 multigenerational households in Bali to understand the ways family carers use and resist local knowledge about multigenerational caregiving for older adults. RESULTS: Using qualitative analysis of the interplay between personal and public narratives, we found that narratives of local knowledge provide moral imperatives related to care, which shape expectations and a standard for evaluating the younger generations' behaviour. While most of the participants' accounts fit comfortably with these local narratives, some described challenges in which their life circumstances prevented them from identifying themselves as a virtuous carer. DISCUSSION AND IMPLICATIONS: Findings provide insight into the role of local knowledge in constructing caregiving function, carers' identities, family relationships, families' adaptation, and the influence of social structure (e.g., poverty and gender) on caregiving issues in Bali. These local narratives both confirm and dispute findings from other locations.

Why do academics fail to plan for retirement? Employers' and employees' views.

Studies have shown that early and informed retirement planning lead to a successful retirement transition, and adjustments. Despite this fact, it has been widely reported that most of employees inadequately plan for their retirement. Existing empirical evidence provides limited information on barriers which affect academics' retirement planning in sub-Saharan Africa, particularly Tanzania. Informed by the Life Course Perspective Theory, the present study qualitatively explored the retirement planning barriers from perspectives of the academics and their employers in four purposefully selected universities in Tanzania. The focused group discussions (FGDs) and semi-structured interviews were employed to generate data from the participants. The thematic approach guided data analysis and interpretations. The study revealed seven barriers which affect retirement planning among academics in higher education. These include: Limited knowledge of retirement planning, lack of investment management skills and experience, failure to prioritize expenditure, attitude towards retirement, financial constraints due to extended family needs, retirement policies and legal reforms, and limited time to supervise investments. Based on the findings, the study provides recommendations to address personal, cultural and systemic barriers in order to support academics' successful transition to retirement.

FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family.

Multiple synostoses syndrome (OMIM: #186500, #610017, #612961, #617898) is a genetically heterogeneous group of autosomal dominant diseases characterized by abnormal bone unions. The joint fusions frequently involve the hands, feet, elbows or vertebrae. Pathogenic variants in FGF9 have been associated with multiple synostoses syndrome type 3 (SYNS3). So far, only five different missense variants in FGF9 that cause SYNS3 have been reported in 18 affected individuals. Unlike other multiple synostoses syndromes, conductive hearing loss has not been reported in SYNS3. In this report, we describe the clinical and selected radiological findings in a large multigenerational family with a novel missense variant in FGF9: c.430T>C, p.(Trp144Arg). We extend the phenotypic spectrum of SYNS3 by suggesting that cleft palate and conductive hearing loss are part of the syndrome and highlight the high degree of intrafamilial phenotypic variability. These findings should be considered when counseling affected individuals.